Canonical Allele Identifier: CA2803510424
Gene: HERC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28120470_28120473del , CM000677.2:g.28120470_28120473del GRCh38
NC_000015.9:g.28365616_28365619del , CM000677.1:g.28365616_28365619del GRCh37
NC_000015.8:g.26039211_26039214del NCBI36
NG_016355.1:g.206678_206681del

Transcript Alleles

HGVS Amino-acid change
ENST00000261609.13:c.13272+874_13272+877del MANE Select ENSP00000261609.8:n.13272+874_13272+877del
ENST00000650509.1:c.4751+874_4751+877del ENSP00000496936.1:n.4751+874_4751+877del
ENST00000261609.11:c.13272+874_13272+877del ENSP00000261609.7:n.13272+874_13272+877del
NM_004667.5:c.13272+874_13272+877del NP_004658.3:n.13272+874_13272+877del
XM_005268276.3:c.13158+874_13158+877del XP_005268333.1:n.13158+874_13158+877del
XM_005268277.3:c.13158+874_13158+877del XP_005268334.1:n.13158+874_13158+877del
XM_006720726.2:c.13257+874_13257+877del XP_006720789.1:n.13257+874_13257+877del
XM_006720727.2:c.13014+874_13014+877del XP_006720790.1:n.13014+874_13014+877del
XM_011522131.1:c.12789+874_12789+877del XP_011520433.1:n.12789+874_12789+877del
XM_011522132.1:c.10788+874_10788+877del XP_011520434.1:n.10788+874_10788+877del
XM_011522133.1:c.10017+874_10017+877del XP_011520435.1:n.10017+874_10017+877del
XM_011522134.1:c.7389+874_7389+877del XP_011520436.1:n.7389+874_7389+877del
XM_005268276.5:c.13158+874_13158+877del XP_005268333.1:n.13158+874_13158+877del
XM_006720726.3:c.13257+874_13257+877del XP_006720789.1:n.13257+874_13257+877del
XM_006720727.3:c.13014+874_13014+877del XP_006720790.1:n.13014+874_13014+877del
XM_017022695.1:c.13158+874_13158+877del XP_016878184.1:n.13158+874_13158+877del
XM_017022696.1:c.13158+874_13158+877del XP_016878185.1:n.13158+874_13158+877del
XM_017022697.1:c.6438+874_6438+877del XP_016878186.1:n.6438+874_6438+877del
XM_017022698.1:c.6438+874_6438+877del XP_016878187.1:n.6438+874_6438+877del
NM_004667.6:c.13272+874_13272+877del MANE Select NP_004658.3:n.13272+874_13272+877del